Unique variants in gene FH

Information The variants shown are described using the NM_000143.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? 2 - c.-11C>T r.(=) p.(=) g.241683033G>A - FH_000027 rs200942733 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.41T>C r.(?) p.(Leu14Pro) g.241682982A>G - FH_000032 rs1553342163 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.73G>A r.(?) p.(Ala25Thr) g.241682950C>T - FH_000016 rs999146815 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.77C>T r.(?) p.(Pro26Leu) g.241682946G>A - FH_000026 rs187226800 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.178C>T r.(=) p.(=) g.241680571G>A - FH_000004 rs201146499 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.207C>T r.(=) p.(=) g.241680542G>A - FH_000003 rs370392829 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.310G>A r.(?) p.(Ala104Thr) g.241676971C>T - FH_000002 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.346A>T r.(?) p.(Ile116Phe) g.241676935T>A - FH_000029 rs201532589 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.358A>G r.(?) p.(Ile120Val) g.241676923T>C - FH_000013  rs199641124 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.415G>A r.(?) p.(Val139Met) g.241675407C>T - FH_000031 rs200343823 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.540T>C r.(=) p.(=) g.241675282A>G - FH_000012 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.555+27_555+28insT r.(=) p.(=) g.241675239_241675240insA - FH_000022 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.556-4A>G r.spl? p.? g.241672089T>C - FH_000030 rs370229813 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.580G>A r.(?) p.(Ala194Thr) g.241672061C>T - FH_000001 rs587782215 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.601A>G r.(?) p.(Ile201Val) g.241672040T>C - FH_000011 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.602T>C r.(?) p.(Ile201Thr) g.241672039A>G - FH_000036 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.611A>G r.(?) p.(His204Arg) g.241672030T>C - FH_000019 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.618A>G r.(=) p.(=) g.241672023T>C - FH_000033 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.620T>C r.(?) p.(Leu207Pro) g.241672021A>G - FH_000010 rs1060500894 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.655G>A r.(?) p.(Asp219Asn) g.241671986C>T - FH_000018  rs11545656 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.739-7_739-3del r.spl? p.? g.241669471_241669475del - FH_000007 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.741A>G r.(=) p.(=) g.241669466T>C - FH_000039 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.765A>G r.(=) p.(=) g.241669442T>C - FH_000014 rs200965107 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.904+39C>G r.(=) p.(=) g.241669264G>C - FH_000034 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.904+51T>C r.(=) p.(=) g.241669252A>G - FH_000025 - - Germline - - - - Despoina Kalfakakou
-?/-? 8 - c.905-39A>G r.(=) p.(=) g.241667584T>C - FH_000009 rs200809528 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.915T>G r.(?) p.(Phe305Leu) g.241667535A>C - FH_000043 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.969G>A r.(=) p.(=) g.241667481C>T - FH_000044 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1108+38G>T r.(=) p.(=) g.241667304C>A - FH_000046 - - Germline - - - - Despoina Kalfakakou
+?/+? 3 - c.1127A>C r.(?) p.(Gln376Pro) g.241665852T>G - FH_000015 rs200796606 Associated with Fumarase deficiency only and not with Leiomyomatosis and renal cell cancer Germline - - - - Despoina Kalfakakou
?/? 1 - c.1202G>C r.(?) p.(Gly401Ala) g.241665777C>G - FH_000037 rs1573879289 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1237-51G>C r.(=) p.(=) g.241663941C>G - FH_000042 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1237-17_1237-16insTCTCTC r.(=) p.(=) g.241663906_241663907insGAGAGA - FH_000040 rs144131869 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1237-16_1237-13del r.(=) p.(=) g.241663903_241663906del - FH_000041 rs144131869 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1237-15_1237-14insTCTC r.(=) p.(=) g.241663904_241663905insGAGA - FH_000006 rs144131869 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1237-15_1237-14insTCTCTCTC r.(=) p.(=) g.241663904_241663905insGAGAGAGA - FH_000045 rs144131869 - Germline - - - - Despoina Kalfakakou
?/? 6 - c.1237-14_1237-13del r.(=) p.(=) g.241663903_241663904del - FH_000005 rs144131869 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1237-14_1237-13dup r.(=) p.(=) g.241663903_241663904dup - FH_000008 rs144131869 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1322A>G r.(?) p.(Asn441Ser) g.241663805T>C - FH_000035 rs1357584529 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.1390+36G>A r.(=) p.(=) g.241663701C>T - FH_000017 rs200274147 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1391-3C>G r.spl? p.? g.241661273G>C - FH_000020 - - Germline - - - - Despoina Kalfakakou
+?/+? 1 - c.1433_1434insAAA r.(?) p.(Lys477dup) g.241661227_241661228insTTT - FH_000021 rs367543046 Probably associated with Fumarase deficiency only and not with Leiomyomatosis and renal cell cancer Germline - - - - Despoina Kalfakakou
?/? 1 - c.1459A>G r.(?) p.(Ile487Val) g.241661202T>C - FH_000024 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*29_*30del r.(=) p.(=) g.241661098_241661099del - FH_000023 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.*36A>C r.(=) p.(=) g.241661092T>G - FH_000028 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.*42A>G r.(=) p.(=) g.241661086T>C - FH_000038 - - Germline - - - - Despoina Kalfakakou
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